Canonical Allele Identifier: PA2827478334
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 140938
ClinVar RCV Id: RCV000129213 RCV000206213 RCV000212468 RCV000590757 RCV001798435 RCV002478384 RCV004528849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336885.1:p.Pro417Leu
CA294010
NM_001349956.2:c.1250C>T